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ABSTRACT: To study the relationship between pre-pregnancy body mass index (BMI) and weight gain during pregnancy with pregnancy and birth outcomes, with a focus on gestational diabetes and hypertension and their role in the association with fetal growth. We studied 1,884 mothers and offspring from the Eden mother-child cohort. Weight before pregnancy (W1) and weight after delivery (W2) were collected and we calculated BMI and net gestational weight gain (netGWG = (W2 - W1)/(weeks of gestation)). Gestational diabetes, hypertension gestational age and birth weight were collected. We used multivariate linear or logistic models to study the association between BMI, netGWG and pregnancy and birth outcomes, adjusting for center, maternal age and height, parity and average number of cigarettes smoked per day during pregnancy. High BMI was more strongly related to the risk of giving birth to a large-for-gestational-age (LGA) baby than high netGWG (odds ratio OR [95% CI] of 3.23 [1.86-5.60] and 1.61 [0.91-2.85], respectively). However, after excluding mothers with gestational diabetes or hypertension the ORs for LGA, respectively weakened (OR 2.57 [1.29-5.13]) for obese women and strengthened for high netGWG (OR 2.08 [1.14-3.80]). Low in comparison to normal netGWG had an OR of 2.18 [1.20-3.99] for pre-term birth, which became stronger after accounting for blood pressure and glucose disorders (OR 2.70 [1.37-5.34]). Higher net gestational weight gain was significantly associated with an increased risk of LGA only after accounting for blood pressure and glucose disorders. High gestational weight gain should not be neglected in regard to risk of LGA in women without apparent risk factors.
Maternal and Child Health Journal 01/2011; 16(2):355-63. · 2.24 Impact Factor
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ABSTRACT: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA).
We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases).
We identified a deleterious copy number variation (CNV) in five fetuses (10%). De novo genomic imbalances identified in this study consisted of a 6qter deletion in a fetus with brain and renal malformations, a mosaicism for a 8p tetrasomy in a fetus with agenesis of corpus callosum, growth retardation, mild facial dysmorphic features, and vertebral anomalies, a 17p13.3 deletion in a fetus with a complex brain malformation, and a partial 11p trisomy in a fetus with severe growth retardation and oligoamnios. In one case, we identified a partial 17q trisomy resulting from malsegregation of a cryptic-balanced translocation.
This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing.
Prenatal Diagnosis 02/2010; 30(4):333-41. · 2.11 Impact Factor
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Ultrasound in Obstetrics and Gynecology 10/2009; 34(S1):52. · 3.01 Impact Factor
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Ultrasound in Obstetrics and Gynecology 10/2009; 34(S1):52. · 3.01 Impact Factor
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ABSTRACT: A quantitative study of the elastic fibres found in the human temporomandibular disc and its attachments was performed. Seven left discs from 57- to 82-year-old subjects, without macroscopic evidence of a TMJ disorder, were analysed and prepared in parasagittal sections. The surface amount was measured, thresholded and expressed from 0 to 1, using microscopic digitized views after Weigert's resorcin-fuchsin staining of elastic fibres. Fibre density rates ranged from 0 to 0.687. The mean density was 0.1532 (sigma=0.1150) in the upper bilaminary zone, 0.1097 (sigma=0.1159) in the lower bilaminary zone, 0.0474 (sigma=0.0782) in the anterior band, 0.0180 (sigma=0.0603) in the posterior band and null in the intermediate zone. The difference in density rate between the structures was significant, except for the posterior band and the intermediate zone. The elastic fibre density rates in central and medial locations of the upper and lower bilaminary zones were twice as big as in the lateral locations. In the anterior band, the elastic fibre density was less abundant medially than in its lateral part. These quantitative results support the current elastic fibre distribution scheme, and confirm the necessity of studying their orientation, taking into account age and temporomandibular joint health parameters.
International Journal of Oral and Maxillofacial Surgery 01/2007; 35(12):1120-6. · 1.51 Impact Factor
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ABSTRACT: To assess the ability and safety of radiofrequency (RF) to induce cord thermal lesions using in-vitro perfused umbilical cords.
Nineteen human term umbilical cords were cannulated at both ends and perfused continuously with saline serum in a saline serum bath (37 degrees C). The RF electrode was then inserted into the cord close to the umbilical vein. Different RF power and temperature controls were applied to determine the optimal RF procedure in terms of cord tissue injury and safety in nine experiments. The safety of RF procedures was investigated in ten cords by measuring temperature changes at different sites close to the RF electrode insertion and the impact of RF on cord narrowing was evaluated by continuous monitoring of intraluminal pressure. Subsequent histopathological analysis was carried out in all cases.
The optimal RF procedure reached a temperature of 100 degrees C in 10 min. RF produced a significant increase in intraluminal pressure (from 54.2 +/- 16.4 mmHg at baseline to 118.3 +/- 42.7 mmHg after 10 min, P < 0.05). There was no significant increase in temperature next to the site of insertion during the RF procedure. Histopathological analysis confirmed a > 30% decrease in cord and vein diameter. Cord tissue lesions were characterized by damage in the vessel walls and in the surrounding Wharton's jelly.
Our results suggest that RF might be a feasible and safe technique to induce occlusion of umbilical vessels. Further in-vivo experiments are needed to assess its ability to induce a complete occlusion of the umbilical cord.
Ultrasound in Obstetrics and Gynecology 08/2006; 28(2):187-92. · 3.01 Impact Factor
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ABSTRACT: Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names.
Clinical Genetics 01/1986; 28(6):495-502. · 3.13 Impact Factor
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ABSTRACT: Three cases of triploidy have been diagnosed prenatally on ultrasonography and clinical features. A morphological and histological study of both foetus and placenta is made. The cases and a review of live-born triploid infants published in the literature allow a description of some characteristic malformations. Possibilities of triploïd pregnancy recognition are discussed.
Journal de génétique humaine 07/1985; 33(2):143-52.
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ABSTRACT: The phenotype of 11q terminal deletion also known as Jacobsen syndrome is a clinically well known entity whose diagnosis in infancy and childhood is based on clinical examination, hematological and cytogenetic findings. Hematological features in Jacobsen syndrome are very similar to those reported in Paris-Trousseau syndrome (PTS) which is also associated with11q terminal deletion. Karyotype analysis shows a variable terminal deletion from 11q23 sub-band extending to the telomere. Most often in patients with Jacobsen syndrome, this chromosomal deletion is present in all metaphases. We report on the identification of a distal 11q deletion in mosaic (20% of deleted cells) in a fetus ascertained after amniocentesis for maternal serum screening test indicative for Down syndrome. The present case is the third prenatal diagnosis of a mosaic for a distal 11q deletion with the lowest mosaicism rate. The 2D-ultrasound examination and cord blood hematological studies were useful to estimate the prognosis at term, considering the contribution of the mosaicism rate to the phenotypic variability in Jacobsen syndrome. The identification of mosaicism for distal 11q deletion is a very rare event in prenatal diagnosis. This case illustrates the complexity in genetic counselling for prenatally ascertained partial monosomy 11qter in mosaic.
European Journal of Medical Genetics 50(6):475-81. · 2.18 Impact Factor
